AIMS: To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in-depth modern biochemical study of four children in the same family. SUBJECTS AND METHODS: Four related children with cherubism were studied. Tissue taken from one of the children at elective decompression of an optic nerve was submitted to in vitro bone resorption studies. Cytogenetic studies were done on two of the children and biochemical studies on all four. RESULTS: The multinucleate cells in the cherubic lesions were shown to be osteoclasts since they synthesised tartrate resistant acid phosphatase, expressed the vitronectin receptor, and resorbed bone. Bone resorption by the cultured multinucleate cells was significantly inhibited by calcitonin. High resolution cytogenetic studies failed to detect any chromosomal abnormalities in two children with cherubism. The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels. Urine analysis of pyridinium and deoxypyridinium cross links, hydroxyproline, and calcium in relation to urine creatinine were measured to assess bone resorption in these children, and the values were at the upper end of the normal range in all four. CONCLUSIONS: Further studies are required to determine whether calcitonin treatment will control this grossly deforming disease until the time when the physiological changes that occur at puberty rectify the pathology. It is not recommended that biochemical markers of bone resorption are used in isolation to monitor the activity of cherubism in individuals because the results are based on a small number of children and because of reports of marked interindividual variation in the levels of these markers, particularly in children.
AIMS: To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in-depth modern biochemical study of four children in the same family. SUBJECTS AND METHODS: Four related children with cherubism were studied. Tissue taken from one of the children at elective decompression of an optic nerve was submitted to in vitro bone resorption studies. Cytogenetic studies were done on two of the children and biochemical studies on all four. RESULTS: The multinucleate cells in the cherubic lesions were shown to be osteoclasts since they synthesised tartrate resistant acid phosphatase, expressed the vitronectin receptor, and resorbed bone. Bone resorption by the cultured multinucleate cells was significantly inhibited by calcitonin. High resolution cytogenetic studies failed to detect any chromosomal abnormalities in two children with cherubism. The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels. Urine analysis of pyridinium and deoxypyridinium cross links, hydroxyproline, and calcium in relation to urine creatinine were measured to assess bone resorption in these children, and the values were at the upper end of the normal range in all four. CONCLUSIONS: Further studies are required to determine whether calcitonin treatment will control this grossly deforming disease until the time when the physiological changes that occur at puberty rectify the pathology. It is not recommended that biochemical markers of bone resorption are used in isolation to monitor the activity of cherubism in individuals because the results are based on a small number of children and because of reports of marked interindividual variation in the levels of these markers, particularly in children.
Authors: H Yoshida; S Hayashi; T Kunisada; M Ogawa; S Nishikawa; H Okamura; T Sudo; L D Shultz; S Nishikawa Journal: Nature Date: 1990-05-31 Impact factor: 49.962
Authors: J Mangion; N Rahman; S Edkins; R Barfoot; T Nguyen; A Sigurdsson; J V Townend; D R Fitzpatrick; A M Flanagan; M R Stratton Journal: Am J Hum Genet Date: 1999-07 Impact factor: 11.025
Authors: C I van Capelle; P H G Hogeman; C J M van der Sijs-Bos; B G F Heggelman; B Idowu; P J Slootweg; A R M Wittkampf; A M Flanagan Journal: Eur J Pediatr Date: 2006-11-21 Impact factor: 3.183
Authors: Tomoyuki Mukai; Shu Ishida; Remi Ishikawa; Teruhito Yoshitaka; Mizuho Kittaka; Richard Gallant; Yi-Ling Lin; Robert Rottapel; Marco Brotto; Ernst J Reichenberger; Yasuyoshi Ueki Journal: J Bone Miner Res Date: 2014-12 Impact factor: 6.741
Authors: Grace Chen; Ioannis D Dimitriou; Jose La Rose; Subburaj Ilangumaran; Wen-Chen Yeh; Gina Doody; Martin Turner; Jennifer Gommerman; Robert Rottapel Journal: Mol Cell Biol Date: 2007-02-05 Impact factor: 4.272